Showing 1 - 3 results of 3 for search 'Loren Pena', query time: 0.02s Refine Results
  1. 1
    P132: Expansion of the IRF2BPL-related disorder phenotype: Initial updates from natural history study*

    P132: Expansion of the IRF2BPL-related disorder phenotype: Initial updates from natural history study* by Tomas Vanagunas, Loren Pena

    Published 2024-01-01
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  2. 2
    Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV

    Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease... by Chie Naito, Karis Kosar, Eriko Kishimoto, Loren Pena, Yilun Huang, Kaili Hao, Anas Bernieh, Jennifer Kasten, Chet Villa, Priya Kishnani, Bali Deeksha, Mingxia Gu, Akihiro Asai

    Published 2024-06-01
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  3. 3
    A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

    A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network by Rebecca C. Spillmann, Allyn McConkie-Rosell, Loren Pena, Yong-Hui Jiang, Undiagnosed Diseases Network, Kelly Schoch, Nicole Walley, Camilla Sanders, Jennifer Sullivan, Stephen R. Hooper, Vandana Shashi

    Published 2017-04-01
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